Literature DB >> 19309799

Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.

Morad Khayat1.   

Abstract

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Year:  2009        PMID： 19309799

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  3 in total

1.  Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Authors:  Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

2.  Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.

Authors:  Beibei Yan; Chao Wang; Kaihui Zhang; Haiyan Zhang; Min Gao; Yuqiang Lv; Xiaoying Li; Yi Liu; Zhongtao Gai
Journal:  Front Genet       Date:  2019-08-22       Impact factor: 4.599

3.  Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Authors:  Jasmine Isler; Véronique Rüfenacht; Corinne Gemperle; Gabriella Allegri; Johannes Häberle
Journal:  JIMD Rep       Date:  2020-01-09
  3 in total

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